[Adult leukoencephalopathy with axonal spheroids and pigmented glia]

Area of Science:

• Neuroscience
• Genetics
• Neuropathology

Background:

• Adult leukoencephalopathy with axonal spheroids and pigmented glia (AXP-PG) is a rare, progressive neurological disease.
• Characterized by white matter demyelination, axonal spheroids, and pigmented glia, it presents with cognitive and motor deficits.
• Mutations in the CSF1R gene are implicated, leading to autosomal dominant inheritance.

Purpose of the Study:

• To highlight the diagnostic challenges of AXP-PG due to its varied and nonspecific clinical presentation.
• To emphasize the potential for misdiagnosis with common neurodegenerative diseases like Alzheimer's and Parkinson's.
• To present a family case study of AXP-PG identified through genetic analysis.

Main Methods:

• Clinical observation of a family exhibiting symptoms consistent with AXP-PG.
• Targeted panel sequencing to identify genetic mutations.
• Review of clinical manifestations and comparison with known AXP-PG characteristics.

Main Results:

• The study identified a family case of AXP-PG.
• Targeted panel sequencing confirmed the diagnosis.
• The case underscores the diagnostic difficulties and the importance of genetic testing.

Conclusions:

• AXP-PG is frequently misdiagnosed due to overlapping symptoms with other neurological conditions.
• Low physician awareness contributes to underdiagnosis and underestimation of its prevalence.
• Genetic testing, such as targeted panel sequencing, is essential for accurate diagnosis of AXP-PG.